ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
2 6 167 164 17 1 345

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RNASEH2C 2 6 102 121 6 1 226
LOC130006061, RNASEH2C 0 0 33 38 1 0 72
KAT5, RNASEH2C 0 0 29 4 10 0 43
LOC130006062, RNASEH2C 0 0 1 1 0 0 2
ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2 0 0 1 0 0 0 1
AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 116 154 6 0 277
Illumina Laboratory Services, Illumina 0 0 47 7 11 0 65
Fulgent Genetics, Fulgent Genetics 1 0 3 2 1 0 7
Baylor Genetics 0 0 4 0 0 0 4
Revvity Omics, Revvity 1 0 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
OMIM 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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